Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ARMC12 221481 broad.mit.edu 37 6 35716341 35716341 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:35716341C>G ENST00000373866.3 + 6 739 c.717C>G c.(715-717)ttC>ttG p.F239L ARMC12_ENST00000288065.2_Missense_Mutation_p.F266L|ARMC12_ENST00000373869.3_Intron Q5T9G4 CF081_HUMAN armadillo repeat containing 12 239 binding TAAACCTGTTCCAGCCCACAC 0.488000 6 61 0 0 0.001984 0 0 DDR1 780 broad.mit.edu 37 6 30862337 30862337 + Missense_Mutation SNP G G A rs145788270 TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:30862337G>A ENST00000324771.8 + 13 1950 c.1402G>A c.(1402-1404)Gac>Aac p.D468N DDR1_ENST00000452441.1_Missense_Mutation_p.D468N|DDR1_ENST00000361741.4_Intron|DDR1_ENST00000376568.3_Missense_Mutation_p.D468N|DDR1_ENST00000376567.2_Missense_Mutation_p.D468N|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376575.3_Missense_Mutation_p.D468N|DDR1_ENST00000508312.1_Missense_Mutation_p.D486N|DDR1_ENST00000376570.4_Missense_Mutation_p.D468N|DDR1_ENST00000513240.1_Missense_Mutation_p.D468N|DDR1_ENST00000454612.2_Missense_Mutation_p.D468N|DDR1_ENST00000418800.2_Missense_Mutation_p.D468N|DDR1_ENST00000376569.3_Missense_Mutation_p.D468N Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 468 cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TGTCCCTGGGGACACTATCCT 0.627000 6 101 0 0 0.001168 0 0 FAM171A1 221061 broad.mit.edu 37 10 15325934 15325934 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:15325934C>T ENST00000378116.4 - 2 274 c.268G>A c.(268-270)Gcc>Acc p.A90T NM_001010924.1 NP_001010924.1 Q5VUB5 F1711_HUMAN family with sequence similarity 171, member A1 90 integral to membrane breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 52 TGCTTCGAGGCGGTGACAATC 0.542000 12 181 0 0 0.010729 0 0 ATP10D 57205 broad.mit.edu 37 4 47584075 47584075 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr4:47584075G>A ENST00000273859.3 + 21 4016 c.3747G>A c.(3745-3747)aaG>aaA p.K1249K ATP10D_ENST00000512393.1_3'UTR NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1249 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TTGAAAGCAAGAGTTTGGTGA 0.448000 16 125 0 0 0.004990 0 0 ZHX3 23051 broad.mit.edu 37 20 39833262 39833262 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr20:39833262C>T ENST00000309060.3 - 4 710 c.295G>A c.(295-297)Gag>Aag p.E99K ZHX3_ENST00000544979.2_Missense_Mutation_p.E99K|ZHX3_ENST00000432768.2_Missense_Mutation_p.E99K|ZHX3_ENST00000557816.1_Missense_Mutation_p.E99K|ZHX3_ENST00000540170.1_Missense_Mutation_p.E99K|ZHX3_ENST00000559234.1_Missense_Mutation_p.E99K|ZHX3_ENST00000560361.1_Missense_Mutation_p.E99K|ZHX3_ENST00000558993.1_Missense_Mutation_p.E99K Q9H4I2 ZHX3_HUMAN zinc fingers and homeoboxes 3 99 Required for nuclear localization. negative regulation of transcription, DNA-dependent cytoplasm|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 Myeloproliferative disorder(115;0.00425) TCTGTGTGCTCTGAGTTCATA 0.443000 5 136 0 0 0.001168 0 0 CPM 1368 broad.mit.edu 37 12 69265567 69265567 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr12:69265567C>T ENST00000551568.1 - 4 488 c.428G>A c.(427-429)gGa>gAa p.G143E CPM_ENST00000546373.1_Missense_Mutation_p.G143E|CPM_ENST00000338356.3_Missense_Mutation_p.G143E NM_001005502.2|NM_198320.3 NP_001005502.1|NP_938079.1 P14384 CBPM_HUMAN carboxypeptidase M 143 anatomical structure morphogenesis|proteolysis anchored to membrane|cytoplasm|nucleus|plasma membrane metallocarboxypeptidase activity|zinc ion binding large_intestine(1)|lung(6)|prostate(2) 9 all_epithelial(5;1.09e-35)|Lung NSC(4;1.47e-33)|all_lung(4;1.02e-31)|Breast(13;1.59e-06) all cancers(2;2.69e-50)|GBM - Glioblastoma multiforme(2;7.34e-41)|BRCA - Breast invasive adenocarcinoma(5;5.38e-10)|Lung(24;4.61e-05)|LUAD - Lung adenocarcinoma(15;0.000376)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) TCTTTACCTTCCGATGCTGTA 0.463000 19 100 0 0 0.010504 0 0 CSF1R 1436 broad.mit.edu 37 5 149434896 149434896 + Missense_Mutation SNP A A G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:149434896A>G ENST00000286301.3 - 20 2849 c.2558T>C c.(2557-2559)cTg>cCg p.L853P NM_005211.3 NP_005202.2 P07333 CSF1R_HUMAN colony stimulating factor 1 receptor 853 Protein kinase. cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane|receptor complex ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 93 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) Imatinib(DB00619)|Sunitinib(DB01268) GTAGGGATTCAGCCCTGCAAA 0.507000 3 99 0 0 0.004672 0 0 C18orf54 162681 broad.mit.edu 37 18 51900620 51900620 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:51900620G>A ENST00000300091.5 + 7 1344 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K C18orf54_ENST00000578138.1_Missense_Mutation_p.E117K|C18orf54_ENST00000582188.1_3'UTR|C18orf54_ENST00000382911.4_Missense_Mutation_p.E499K NM_173529.4 NP_775800.3 Q8IYD9 CR054_HUMAN chromosome 18 open reading frame 54 338 extracellular region breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 15 Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186) ACAGTTGAAGGAAAGTATGAT 0.249000 3 43 0 0 0.009096 0 0 ANKHD1 54882 broad.mit.edu 37 5 139914968 139914968 + Nonsense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:139914968C>G ENST00000297183.6 + 30 6996 c.6872C>G c.(6871-6873)tCa>tGa p.S2291* ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.S2291*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.S2291*|ANKHD1_ENST00000544120.1_Intron NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTGACCCATCAGGCAGCTCC 0.473000 10 162 0 0 0.013537 0 0 SCYL2 55681 broad.mit.edu 37 12 100731227 100731227 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr12:100731227G>A ENST00000360820.2 + 17 2525 c.2088G>A c.(2086-2088)ctG>ctA p.L696L NM_017988.4 NP_060458.3 Q6P3W7 SCYL2_HUMAN SCY1-like 2 (S. cerevisiae) 696 endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1) 41 CACAGAAGCTGAAAAGCCAGC 0.378000 7 69 0 0 0.001984 0 0 PCBP1 5093 broad.mit.edu 37 2 70314888 70314888 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr2:70314888G>A ENST00000303577.5 + 1 304 c.13G>A c.(13-15)Gtg>Atg p.V5M PCBP1-AS1_ENST00000413436.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA|PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 5 nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GGATGCCGGTGTGACTGAAAG 0.587000 10 63 0 0 0.013537 0 0 TCEB3C 162699 broad.mit.edu 37 18 44555115 44555115 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:44555115G>A ENST00000330682.2 - 1 1334 c.1099C>T c.(1099-1101)Ctg>Ttg p.L367L KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron NM_145653.3 NP_663628.2 Q8NG57 ELOA3_HUMAN transcription elongation factor B polypeptide 3C (elongin A3) 367 Activation domain (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus DNA binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2) 30 CACCCTTCCAGAACGGGTTCA 0.607000 22 1463 0 0 0.006122 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110486316 110486316 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr11:110486316G>A ENST00000260283.4 - 6 790 c.506C>T c.(505-507)tCt>tTt p.S169F ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S143F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S133F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S133F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S146F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S143F NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 169 PH. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) TTGTTCTGGAGAACTGCAATC 0.299000 9 66 0 0 0.008291 0 0 MINK1 50488 broad.mit.edu 37 17 4799524 4799524 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:4799524G>T ENST00000355280.6 + 29 3698 c.3502G>T c.(3502-3504)Gac>Tac p.D1168Y MINK1_ENST00000453408.3_Missense_Mutation_p.D1148Y|MINK1_ENST00000347992.7_Missense_Mutation_p.D1139Y NM_001024937.3|NM_015716.4|NM_153827.4 NP_001020108.1|NP_056531.1|NP_722549.2 Q8N4C8 MINK1_HUMAN misshapen-like kinase 1 1168 CNH.|Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 TCTGCTGGTCGACCTGACAGT 0.627000 OREG0024107 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 53 0.00116845 0.00126528 0.001168 1 0 FREM1 158326 broad.mit.edu 37 9 14746434 14746434 + Nonsense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr9:14746434C>T ENST00000380881.4 - 36 6989 c.6174G>A c.(6172-6174)tgG>tgA p.W2058* FREM1_ENST00000422223.2_Nonsense_Mutation_p.W2057*|FREM1_ENST00000380894.1_Nonsense_Mutation_p.W593*|FREM1_ENST00000380880.3_Nonsense_Mutation_p.W2057* Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2057 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) AGTGCTGGTGCCACCCGGCTG 0.493000 4 135 0 0 0.009096 0 0 SPEG 10290 broad.mit.edu 37 2 220337647 220337647 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr2:220337647G>A ENST00000312358.7 + 16 4108 c.3976G>A c.(3976-3978)Gtg>Atg p.V1326M SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 1326 Fibronectin type-III 1. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) GCAGCACCAGGTGCTGGGCTC 0.662000 21 15 0 0 0.002780 0 0 DHX9 1660 broad.mit.edu 37 1 182841625 182841625 + Nonsense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:182841625C>T ENST00000367549.3 + 15 1821 c.1711C>T c.(1711-1713)Caa>Taa p.Q571* NM_001357.4 NP_001348.2 Q08211 DHX9_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 9 571 CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 49 TTACCCAGTTCAAGGTAATAT 0.358000 7 109 0 0 0.003080 0 0 NLRP8 126205 broad.mit.edu 37 19 56466505 56466505 + Nonsense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:56466505G>T ENST00000291971.3 + 3 1152 c.1081G>T c.(1081-1083)Gaa>Taa p.E361* NLRP8_ENST00000590542.1_Nonsense_Mutation_p.E361* NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 361 NACHT. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TAATACGATGGAAAAAATCAA 0.463000 25 56 5.35356e-11 6.20886e-11 0.002780 1 0 SLC7A2 6542 broad.mit.edu 37 8 17406258 17406258 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:17406258C>T ENST00000470360.1 + 6 841 c.724C>T c.(724-726)Ctt>Ttt p.L242F SLC7A2_ENST00000494857.1_Missense_Mutation_p.L202F|SLC7A2_ENST00000004531.10_Missense_Mutation_p.L242F|SLC7A2_ENST00000398090.3_Missense_Mutation_p.L242F|SLC7A2_ENST00000522656.1_Missense_Mutation_p.L202F P52569 CTR2_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 202 cellular amino acid metabolic process|ion transport cytoplasm|integral to plasma membrane|membrane fraction basic amino acid transmembrane transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 25 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) L-Lysine(DB00123)|L-Ornithine(DB00129) TATTCTCGTCCTTCTGTTTGT 0.368000 5 124 0 0 0.001984 0 0 PDE4D 5144 broad.mit.edu 37 5 58270597 58270597 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:58270597G>C ENST00000340635.6 - 15 2499 c.2324C>G c.(2323-2325)tCt>tGt p.S775C PDE4D_ENST00000360047.5_Missense_Mutation_p.S639C|PDE4D_ENST00000546160.1_Missense_Mutation_p.S714C|PDE4D_ENST00000503258.1_Missense_Mutation_p.S645C|PDE4D_ENST00000317118.8_Missense_Mutation_p.S484C|PDE4D_ENST00000507116.1_Missense_Mutation_p.S711C|PDE4D_ENST00000405755.2_Missense_Mutation_p.S653C|PDE4D_ENST00000358923.6_Missense_Mutation_p.S473C|PDE4D_ENST00000502484.2_Missense_Mutation_p.S714C NM_001104631.1 NP_001098101.1 Q08499 PDE4D_HUMAN phosphodiesterase 4D, cAMP-specific 775 signal transduction cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1) 15 all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954) Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276) Adenosine monophosphate(DB00131)|Dyphylline(DB00651) AATTTCAGTAGACTCTGAGTC 0.488000 6 362 0 0 0.001168 0 0 KAT7 11143 broad.mit.edu 37 17 47893222 47893222 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:47893222G>A ENST00000503935.2 + 8 1478 c.442G>A c.(442-444)Gag>Aag p.E148K KAT7_ENST00000454930.2_Missense_Mutation_p.E165K|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000510819.1_Missense_Mutation_p.E135K|KAT7_ENST00000259021.4_Missense_Mutation_p.E304K|KAT7_ENST00000435742.2_Missense_Mutation_p.E118K|KAT7_ENST00000424009.2_Missense_Mutation_p.E274K|KAT7_ENST00000509773.1_Missense_Mutation_p.E194K O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 304 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding CCTGACAAGCGAGTATGACTT 0.463000 14 95 0 0 0.004990 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 6 57 0 0 0.001168 0 0 LRP12 29967 broad.mit.edu 37 8 105503599 105503599 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:105503599C>T ENST00000276654.5 - 7 1990 c.1882G>A c.(1882-1884)Gtt>Att p.V628I LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Missense_Mutation_p.V609I NM_013437.4 NP_038465.1 Q9Y561 LRP12_HUMAN low density lipoprotein receptor-related protein 12 628 endocytosis|regulation of growth coated pit|integral to plasma membrane low-density lipoprotein receptor activity|protein binding NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTAGGGACAACCTCATCTCCA 0.428000 14 67 0 0 0.003163 0 0 ADD3 120 broad.mit.edu 37 10 111893106 111893106 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:111893106G>C ENST00000277900.8 + 14 2120 c.1755G>C c.(1753-1755)aaG>aaC p.K585N ADD3_ENST00000356080.4_Missense_Mutation_p.K617N|ADD3_ENST00000360162.3_Missense_Mutation_p.K585N NM_001121.2 NP_001112.2 Q9UEY8 ADDG_HUMAN adducin 3 (gamma) 617 cytoskeleton actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 29 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742) TGTTTTCCAAGAGCTTCATCT 0.393000 14 90 0 0 0.002450 0 0 LRP1 4035 broad.mit.edu 37 12 57597024 57597024 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr12:57597024G>T ENST00000243077.3 + 69 11238 c.10772G>T c.(10771-10773)cGc>cTc p.R3591L NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 3591 LDL-receptor class A 27. aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ATCGCGGGGCGCTGGAAATGC 0.672000 6 30 0.00116845 0.00126528 0.001168 1 0 OTP 23440 broad.mit.edu 37 5 76932777 76932777 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:76932777G>T ENST00000306422.3 - 2 1454 c.316C>A c.(316-318)Cgc>Agc p.R106S OTP_ENST00000515716.1_5'UTR NM_032109.2 NP_115485.1 Q5XKR4 OTP_HUMAN orthopedia homeobox 106 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1) 13 all_lung(232;0.00051)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214) OV - Ovarian serous cystadenocarcinoma(54;9.04e-51)|Epithelial(54;1.62e-45)|all cancers(79;4.4e-41) GTCCGGTGGCGCTTCTGCTTC 0.667000 76 83 9.35349e-44 1.11786e-43 0.014410 1 0 TSSC2 650368 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 5 23 0 0 0.000602 0 0 DNAJC16 23341 broad.mit.edu 37 1 15870967 15870967 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:15870967C>T ENST00000375847.3 + 5 812 c.648C>T c.(646-648)ccC>ccT p.P216P DNAJC16_ENST00000375849.1_Silent_p.P216P|DNAJC16_ENST00000375838.1_Silent_p.P216P NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 216 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ACAGCACGCCCTCTATCCTAG 0.478000 33 24 0 0 0.013726 0 0 KMT2C 58508 broad.mit.edu 37 7 151864343 151864343 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr7:151864343G>A ENST00000355193.2 - 42 9856 c.9638C>T c.(9637-9639)tCa>tTa p.S3213L KMT2C_ENST00000262189.6_Missense_Mutation_p.S3213L lysine (K)-specific methyltransferase 2C TTGTTTAGCTGAAAGGGCCTT 0.443000 10 101 0 0 0.008291 0 0 ACTN3 89 broad.mit.edu 37 11 66330384 66330384 + RNA SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr11:66330384G>C ENST00000513398.1 + 0 2603 ACTN3_ENST00000502692.1_RNA NM_001104.2 NP_001095.1 Q08043 ACTN3_HUMAN actinin, alpha 3 (gene/pseudogene) focal adhesion assembly|muscle filament sliding|regulation of apoptosis actin filament|cytosol|focal adhesion|pseudopodium actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2) 10 TGACACGACTGAGCAAGTTGT 0.602000 8 109 0 0 0.003080 0 0 USP26 83844 broad.mit.edu 37 X 132160985 132160985 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:132160985C>T ENST00000511190.1 - 6 1733 c.1264G>A c.(1264-1266)Gct>Act p.A422T USP26_ENST00000406273.1_Missense_Mutation_p.A422T|USP26_ENST00000370832.1_Missense_Mutation_p.A422T NM_031907.1 NP_114113.1 Q9BXU7 UBP26_HUMAN ubiquitin specific peptidase 26 422 protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 60 Acute lymphoblastic leukemia(192;0.000127) GGATCATCAGCAAAAACCTGT 0.373000 18 70 0 0 0.004990 0 0 ZNF672 79894 broad.mit.edu 37 1 249142538 249142538 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:249142538C>T ENST00000306562.3 + 4 1811 c.1065C>T c.(1063-1065)aaC>aaT p.N355N NM_024836.1 NP_079112.1 Q499Z4 ZN672_HUMAN zinc finger protein 672 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(1) 5 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) CCAATCTCAACGTGCATCGGC 0.647000 4 22 0 0 0.009096 0 0 NFX1 4799 broad.mit.edu 37 9 33342807 33342807 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr9:33342807G>A ENST00000379540.3 + 13 2241 c.2179G>A c.(2179-2181)Gaa>Aaa p.E727K NFX1_ENST00000379521.4_Missense_Mutation_p.E727K|NFX1_ENST00000318524.6_Missense_Mutation_p.E727K NM_002504.4 NP_002495.2 Q12986 NFX1_HUMAN nuclear transcription factor, X-box binding 1 727 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) TCATAGGTGTGAAGAACCTTG 0.398000 14 29 0 0 0.004007 0 0 GDF15 9518 broad.mit.edu 37 19 18499744 18499744 + Nonstop_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:18499744G>C ENST00000252809.3 + 2 958 c.926G>C c.(925-927)tGa>tCa p.*309S NM_004864.2 NP_004855.2 Q99988 GDF15_HUMAN growth differentiation factor 15 0 cell-cell signaling|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1) 12 CACTGCATATGAGCAGTCCTG 0.572000 OREG0025363 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 78 0 0 0.007413 0 0 RBM26 64062 broad.mit.edu 37 13 79945293 79945293 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr13:79945293G>A ENST00000438737.2 - 5 861 c.421C>T c.(421-423)Cgt>Tgt p.R141C RBM26_ENST00000267229.7_Missense_Mutation_p.R141C|RBM26_ENST00000438724.1_Missense_Mutation_p.R141C Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 141 Arg-rich. mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) CTCTCATCACGGCTTCTAAAG 0.338000 10 118 0 0 0.006214 0 0 DNAH7 56171 broad.mit.edu 37 2 196664028 196664028 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr2:196664028C>T ENST00000312428.6 - 55 10445 c.10345G>A c.(10345-10347)Gat>Aat p.D3449N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 3449 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ACCTGGTCATCAGCAAATTTT 0.388000 21 90 0 0 0.012319 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507499 74507499 + Missense_Mutation SNP C C A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:74507499C>A ENST00000354431.4 - 7 1307 c.1116G>T c.(1114-1116)gaG>gaT p.E372D LRRIQ3_ENST00000395089.1_Missense_Mutation_p.E372D NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 372 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 GTTGTTTTTTCTCTCTCAATA 0.338000 14 51 9.16793e-09 1.03868e-08 0.004990 1 0 KRTAP4-7 100132476 broad.mit.edu 37 17 39240729 39240729 + Missense_Mutation SNP A A G rs148949542 by1000genomes TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:39240729A>G ENST00000391417.4 + 1 271 c.271A>G c.(271-273)Atg>Gtg p.M91V NM_033061.3 NP_149050.3 keratin associated protein 4-7 NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1) 9 cagctgctgtatgtccagctg 0.677000 3 38 0 0 0.000602 0 0 SMC1A 8243 broad.mit.edu 37 X 53436075 53436075 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:53436075C>T ENST00000322213.4 - 9 1590 c.1463G>A c.(1462-1464)cGc>cAc p.R488H SMC1A_ENST00000375340.6_Missense_Mutation_p.R254H NM_006306.2 NP_006297.2 Q14683 SMC1A_HUMAN structural maintenance of chromosomes 1A 488 cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2) 49 GCGGTCGATGCGGGCATCCCC 0.567000 4 93 0 0 0.001168 0 0 VPS51 738 broad.mit.edu 37 11 64875072 64875072 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr11:64875072G>A ENST00000279281.3 + 3 470 c.378G>A c.(376-378)aaG>aaA p.K126K VPS51_ENST00000527646.1_3'UTR NM_013265.2 NP_037397.2 vacuolar protein sorting 51 homolog (S. cerevisiae) GGAAGATGAAGAACGATTTCC 0.622000 13 45 0 0 0.001855 0 0 ITPRIP 85450 broad.mit.edu 37 10 106075629 106075629 + Silent SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:106075629G>T ENST00000278071.2 - 3 633 c.181C>A c.(181-183)Cgg>Agg p.R61R ITPRIP_ENST00000358187.2_Silent_p.R61R|ITPRIP_ENST00000337478.1_Silent_p.R61R NM_033397.2 NP_203755.1 Q8IWB1 IPRI_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein 61 plasma membrane breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1) 20 GCCGCCAGCCGAGCCACCTCC 0.662000 20 88 1.40151e-16 1.66482e-16 0.010504 1 0 DENND4A 10260 broad.mit.edu 37 15 65983668 65983668 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:65983668G>A ENST00000443035.3 - 23 3476 c.3261C>T c.(3259-3261)ctC>ctT p.L1087L DENND4A_ENST00000431932.2_Silent_p.L1044L NM_001144823.1 NP_001138295.1 Q7Z401 MYCPP_HUMAN DENN/MADD domain containing 4A 1044 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 TAATTCTATTGAGCATAAATC 0.383000 5 57 0 0 0.001168 0 0 KLK10 5655 broad.mit.edu 37 19 51522384 51522384 + Translation_Start_Site SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:51522384C>T ENST00000309958.3 - 2 221 c.3G>A c.(1-3)atG>atA p.M1I KLK10_ENST00000391805.1_Start_Codon_SNP_p.M1I|KLK10_ENST00000358789.3_Start_Codon_SNP_p.M1I NM_002776.4 NP_002767.2 O43240 KLK10_HUMAN kallikrein-related peptidase 10 1 cell cycle|proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) GCGGAGCTCTCATGGCCAGGA 0.687000 4 16 0 0 0.009096 0 0 GATAD2A 54815 broad.mit.edu 37 19 19613328 19613328 + Silent SNP C C A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:19613328C>A ENST00000404158.1 + 13 2185 c.1767C>A c.(1765-1767)ctC>ctA p.L589L GATAD2A_ENST00000537887.1_Silent_p.L217L|GATAD2A_ENST00000358713.3_Silent_p.L588L|GATAD2A_ENST00000252577.5_Silent_p.L563L|GATAD2A_ENST00000360315.3_Silent_p.L588L|GATAD2A_ENST00000429563.2_Silent_p.L391L Q86YP4 P66A_HUMAN GATA zinc finger domain containing 2A 588 DNA methylation|negative regulation of transcription, DNA-dependent nuclear speck|NuRD complex protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 13 AGACGCCCCTCAGCACAGGTG 0.637000 16 86 3.45872e-05 3.87376e-05 0.004007 1 0 CHD2 1106 broad.mit.edu 37 15 93547859 93547859 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:93547859G>T ENST00000394196.4 + 34 5359 c.4291G>T c.(4291-4293)Gat>Tat p.D1431Y CHD2_ENST00000557381.1_Missense_Mutation_p.D1431Y NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1431 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) TAAAAGTGGTGATGCCAAATC 0.403000 7 132 0.00307968 0.00331658 0.003080 1 0 RBMS3 27303 broad.mit.edu 37 3 30032585 30032585 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:30032585G>A ENST00000434693.2 + 14 1889 c.1189G>A c.(1189-1191)Gat>Aat p.D397N RBMS3_ENST00000383767.2_Missense_Mutation_p.D398N|RBMS3_ENST00000383766.2_Missense_Mutation_p.D380N|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000396583.3_Missense_Mutation_p.D395N|RBMS3_ENST00000456853.1_Missense_Mutation_p.D395N|RBMS3_ENST00000452462.1_Missense_Mutation_p.D382N|RBMS3_ENST00000273139.9_Missense_Mutation_p.D382N NM_001003793.2 NP_001003793.1 Q6XE24 RBMS3_HUMAN RNA binding motif, single stranded interacting protein 3 398 cytoplasm nucleotide binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) TGTTGTTGCTGATACCTCTCC 0.488000 4 63 0 0 0.009096 0 0 ARID1A 8289 broad.mit.edu 37 1 27099361 27099361 + Nonsense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:27099361C>T ENST00000324856.7 + 14 3969 c.3598C>T c.(3598-3600)Cag>Tag p.Q1200* ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q817*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1200* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1200 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) CTCCACATTCCAGAAGCGGAA 0.458000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 27 31 0 0 0.003954 0 0 BECN1 8678 broad.mit.edu 37 17 40971588 40971588 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:40971588G>A ENST00000361523.4 - 4 370 c.238C>T c.(238-240)Cgc>Tgc p.R80C BECN1_ENST00000438274.3_Missense_Mutation_p.R80C|BECN1_ENST00000590099.1_Missense_Mutation_p.R80C NM_003766.3 NP_003757.1 Q14457 BECN1_HUMAN beclin 1, autophagy related 80 anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus membrane protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 13 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0745) ATGAATCTGCGAGAGACACCA 0.483000 OREG0024429 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 46 0 0 0.001984 0 0 LOC644669 644669 broad.mit.edu 37 18 15323347 15323347 + RNA SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:15323347T>C ENST00000455308.2 - 0 501 NR_027417.1 CCAATAAAAGTGGTGTGTGGC 0.303000 4 7 0 0 0.000602 0 0 COL19A1 1310 broad.mit.edu 37 6 70909320 70909320 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:70909320G>A ENST00000322773.4 + 49 3205 c.3103G>A c.(3103-3105)Gct>Act p.A1035T COL19A1_ENST00000393344.1_Missense_Mutation_p.A657T NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 1035 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 AGAGAGGATGGCTGTATTCCT 0.413000 16 38 0 0 0.003163 0 0 RXFP3 51289 broad.mit.edu 37 5 33937955 33937955 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:33937955G>A ENST00000330120.3 + 1 1465 c.1110G>A c.(1108-1110)gcG>gcA p.A370A NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 370 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 AGGTATACGCGTTCCCTGTGA 0.617000 23 104 0 0 0.003954 0 0 MAST4 375449 broad.mit.edu 37 5 66459603 66459603 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:66459603G>A ENST00000404260.3 + 29 4913 c.4605G>A c.(4603-4605)ctG>ctA p.L1535L MAST4_ENST00000261569.7_Silent_p.L1338L|MAST4_ENST00000403666.1_Silent_p.L1343L|MAST4_ENST00000403625.2_Silent_p.L1532L|MAST4_ENST00000405643.1_Silent_p.L1353L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1535 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GCGACAAGCTGAAGGCCAAGG 0.607000 3 11 0 0 0.004672 0 0 CORO2B 10391 broad.mit.edu 37 15 68987486 68987486 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:68987486G>A ENST00000543950.1 + 3 563 c.209G>A c.(208-210)aGg>aAg p.R70K CORO2B_ENST00000566799.1_Missense_Mutation_p.R75K|CORO2B_ENST00000261861.5_Missense_Mutation_p.R70K|CORO2B_ENST00000540068.1_Missense_Mutation_p.R70K NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 75 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 CAGACAGGCAGGATTGAACCC 0.532000 24 87 0 0 0.003330 0 0 SPHK2 56848 broad.mit.edu 37 19 49132875 49132875 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:49132875G>A ENST00000443164.1 + 5 2701 c.1996G>A c.(1996-1998)Gcg>Acg p.A666T SPHK2_ENST00000599748.1_Missense_Mutation_p.A568T|SPHK2_ENST00000600537.1_Missense_Mutation_p.A545T|SPHK2_ENST00000598088.1_Missense_Mutation_p.A604T|SPHK2_ENST00000340932.3_Missense_Mutation_p.A566T|SPHK2_ENST00000599029.1_Missense_Mutation_p.A568T|SPHK2_ENST00000245222.4_Missense_Mutation_p.A604T Q9NRA0 SPHK2_HUMAN sphingosine kinase 2 604 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process cytosol|lysosomal membrane|membrane fraction ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) GGGCTACGCCGCGGCCCGTGC 0.687000 4 10 0 0 0.001168 0 0 FARSB 10056 broad.mit.edu 37 2 223464733 223464733 + Missense_Mutation SNP A A G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr2:223464733A>G ENST00000281828.6 - 16 1795 c.1532T>C c.(1531-1533)aTt>aCt p.I511T FARSB_ENST00000536361.1_Missense_Mutation_p.I412T NM_005687.3 NP_005678.3 Q9NSD9 SYFB_HUMAN phenylalanyl-tRNA synthetase, beta subunit 511 phenylalanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|RNA binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 24 Renal(207;0.0183) Epithelial(121;3.47e-10)|all cancers(144;1.86e-07)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.011) L-Phenylalanine(DB00120) CAGCCCATGAATGATCTCAAA 0.433000 24 67 0 0 0.002780 0 0 RYR2 6262 broad.mit.edu 37 1 237729962 237729962 + Nonsense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:237729962G>T ENST00000366574.2 + 28 3627 c.3310G>T c.(3310-3312)Gaa>Taa p.E1104* RYR2_ENST00000542537.1_Nonsense_Mutation_p.E1088*|RYR2_ENST00000360064.6_Nonsense_Mutation_p.E1102* NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1104 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTGGTATTTTGAATTTGAGAC 0.567000 26 124 8.24728e-16 9.73776e-16 0.004656 1 0 CAMTA2 23125 broad.mit.edu 37 17 4883529 4883529 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:4883529T>C ENST00000361571.5 - 8 1496 c.1085A>G c.(1084-1086)gAg>gGg p.E362G CAMTA2_ENST00000358183.4_Missense_Mutation_p.E363G|CAMTA2_ENST00000381311.5_Missense_Mutation_p.E365G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.E363G|CAMTA2_ENST00000572543.1_Missense_Mutation_p.E368G|CAMTA2_ENST00000414043.3_Missense_Mutation_p.E386G NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 363 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 GGCAGAAGGCTCAGTGCCTAC 0.617000 24 24 0 0 0.003954 0 0 WHAMMP3 339005 broad.mit.edu 37 15 23191865 23191865 + RNA SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:23191865C>T ENST00000400153.2 - 0 1831 NR_003521.1 ACGAGAATATCTTATGCTTTC 0.423000 13 35 0 0 0.006122 0 0 SFXN2 118980 broad.mit.edu 37 10 104491933 104491933 + Nonsense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:104491933C>T ENST00000369893.5 + 8 846 c.679C>T c.(679-681)Caa>Taa p.Q227* NM_178858.4 NP_849189.1 Q96NB2 SFXN2_HUMAN sideroflexin 2 iron ion homeostasis integral to membrane cation transmembrane transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1) 13 Colorectal(252;0.207) Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218) AGGCATCACCCAAGTAGTTAT 0.532000 37 71 0 0 0.004878 0 0 PIBF1 10464 broad.mit.edu 37 13 73539485 73539485 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr13:73539485G>C ENST00000326291.6 + 15 2245 c.1907G>C c.(1906-1908)aGa>aCa p.R636T NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 636 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GTGCGTCAGAGAGATTCTAAG 0.353000 9 95 0 0 0.006214 0 0 PTPN14 5784 broad.mit.edu 37 1 214557839 214557839 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:214557839C>G ENST00000366956.5 - 13 1553 c.1359G>C c.(1357-1359)aaG>aaC p.K453N PTPN14_ENST00000543945.1_3'UTR NM_005401.4 NP_005392.2 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 14 453 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGATCCCCCTCTTCATCTGGC 0.572000 45 171 0 0 0.010771 0 0 RIN3 79890 broad.mit.edu 37 14 93125804 93125804 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr14:93125804C>T ENST00000216487.7 + 7 2484 c.2325C>T c.(2323-2325)ctC>ctT p.L775L RIN3_ENST00000418924.2_3'UTR NM_024832.3 NP_079108.3 Q8TB24 RIN3_HUMAN Ras and Rab interactor 3 775 VPS9. endocytosis|signal transduction cytoplasmic membrane-bounded vesicle|early endosome GTPase activator activity|Ras GTPase binding endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 all_cancers(154;0.0701) CCATGGCCCTCGGCAACCCAG 0.582000 10 108 0 0 0.008291 0 0 PPFIA4 8497 broad.mit.edu 37 1 203018835 203018835 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:203018835G>A ENST00000367240.2 + 12 1915 c.1388G>A c.(1387-1389)cGc>cAc p.R463H PPFIA4_ENST00000414050.2_Missense_Mutation_p.R191H|PPFIA4_ENST00000447715.2_Missense_Mutation_p.R488H|PPFIA4_ENST00000295706.4_5'UTR O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 0 SAM 2. cell communication cell surface|cytoplasm protein binding NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 50 GAGAAGCTGCGCCAAGAGGTG 0.692000 9 6 0 0 0.004482 0 0 NCOR2 9612 broad.mit.edu 37 12 124821373 124821373 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr12:124821373G>A ENST00000356219.3 - 39 6217 c.6062C>T c.(6061-6063)tCg>tTg p.S2021L NCOR2_ENST00000405201.1_Missense_Mutation_p.S2014L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1575L|NCOR2_ENST00000404621.1_Missense_Mutation_p.S2004L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S2004L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S2005L NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2025 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTCCGAGGCCGAGGCAGGTGG 0.652000 9 68 0 0 0.006214 0 0 GIMAP1 170575 broad.mit.edu 37 7 150417944 150417944 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr7:150417944C>T ENST00000307194.5 + 3 992 c.852C>T c.(850-852)ggC>ggT p.G284G NM_130759.3 NP_570115.1 GTPase, IMAP family member 1 NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(82;0.0145) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGCTGGGGGGCGCGCTCCTGT 0.687000 4 21 0 0 0.009096 0 0 LHX9 56956 broad.mit.edu 37 1 197890578 197890578 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:197890578C>T ENST00000367390.3 + 4 522 c.495C>T c.(493-495)ttC>ttT p.F165F LHX9_ENST00000337020.2_Silent_p.F174F|LHX9_ENST00000367387.4_Silent_p.F174F|LHX9_ENST00000367391.1_Silent_p.F165F|LHX9_ENST00000561173.1_Silent_p.F180F NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 174 LIM zinc-binding 2. motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 GCGACCATTTCGGCATGAAGG 0.612000 12 45 0 0 0.001855 0 0 ASMTL 8623 broad.mit.edu 37 X 1553955 1553955 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:1553955G>A ENST00000534940.1 - 5 411 c.186C>T c.(184-186)agC>agT p.S62S ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000416733.2_Silent_p.S44S|ASMTL_ENST00000381317.3_Silent_p.S120S|ASMTL_ENST00000381333.4_Silent_p.S104S NM_001173473.1 NP_001166944.1 O95671 ASML_HUMAN acetylserotonin O-methyltransferase-like 120 MAF-like. melatonin biosynthetic process cytoplasm acetylserotonin O-methyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1) 23 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CTGTGAACACGCTGTGTTCTC 0.587000 6 96 0 0 0.003080 0 0 RBM10 8241 broad.mit.edu 37 X 47030582 47030582 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:47030582G>T ENST00000377604.3 + 4 1099 c.357G>T c.(355-357)gaG>gaT p.E119D RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron NM_001204467.1|NM_001204468.1|NM_005676.4 NP_001191396.1|NP_001191397.1|NP_005667.2 P98175 RBM10_HUMAN RNA binding motif protein 10 119 Poly-Glu. mRNA processing|RNA splicing chromatin remodeling complex nucleotide binding|RNA binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 48 aggaggaggaggatgaggagg 0.662000 5 38 0.000602214 0.000663112 0.000602 1 0 SH3D19 152503 broad.mit.edu 37 4 152086849 152086849 + Splice_Site SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr4:152086849C>T ENST00000409598.4 - 8 1862 c.e8-1 SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000409252.2_Splice_Site|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site|SH3D19_ENST00000424281.1_Intron Q5HYK7 SH319_HUMAN SH3 domain containing 19 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) TGAAAGGGATCTAATGAAAAA 0.393000 11 87 0 0 0.008291 0 0 ZNF99 7652 broad.mit.edu 37 19 22939368 22939368 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:22939368T>C ENST00000397104.3 - 7 2802 c.2803A>G c.(2803-2805)Aaa>Gaa p.K935E zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TGAATTGATTTATGTTTAGTA 0.373000 15 38 0 0 0.004007 0 0 ANKRD11 29123 broad.mit.edu 37 16 89348346 89348346 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr16:89348346T>C ENST00000301030.4 - 9 5064 c.4604A>G c.(4603-4605)aAg>aGg p.K1535R ANKRD11_ENST00000378330.2_Missense_Mutation_p.K1535R NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1535 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) TGCACCGTCCTTGAATTTCTC 0.597000 3 84 0 0 0.004672 0 0 MLLT6 4302 broad.mit.edu 37 17 36874167 36874167 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:36874167G>A ENST00000325718.7 + 12 1994 c.1903G>A c.(1903-1905)Gtt>Att p.V635I CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 635 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) CATGGGTGCCGTTAATCCCCT 0.557000 T MLL AL 6 170 0 0 0.001984 0 0 TMEM215 401498 broad.mit.edu 37 9 32784282 32784282 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr9:32784282G>A ENST00000342743.5 + 2 466 c.101G>A c.(100-102)gGg>gAg p.G34E NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 34 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 GGGATGAAAGGGGAGACTTTG 0.592000 25 64 0 0 0.002780 0 0 UBQLN2 29978 broad.mit.edu 37 X 56590917 56590917 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:56590917T>C ENST00000338222.5 + 1 892 c.611T>C c.(610-612)cTc>cCc p.L204P NM_013444.3 NP_038472.2 Q9UHD9 UBQL2_HUMAN ubiquilin 2 204 cytoplasm|nucleus|plasma membrane binding breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1) 21 ATGAGGCAGCTCATTATGGCT 0.453000 40 43 0 0 0.006230 0 0 NAT1 9 broad.mit.edu 37 8 18079981 18079981 + Missense_Mutation SNP A A G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:18079981A>G ENST00000539092.1 + 5 1116 c.425A>G c.(424-426)gAt>gGt p.D142G NAT1_ENST00000307719.4_Missense_Mutation_p.D142G|NAT1_ENST00000541942.1_Missense_Mutation_p.D142G|NAT1_ENST00000535084.1_Missense_Mutation_p.D142G|NAT1_ENST00000520546.1_Missense_Mutation_p.D142G|NAT1_ENST00000517492.1_Missense_Mutation_p.D142G|NAT1_ENST00000518029.1_Missense_Mutation_p.D142G|NAT1_ENST00000517441.1_3'UTR|NAT1_ENST00000545197.1_Missense_Mutation_p.D204G NM_001160170.1|NM_001160172.1 NP_001153642.1|NP_001153644.1 P18440 ARY1_HUMAN N-acetyltransferase 1 (arylamine N-acetyltransferase) 142 xenobiotic metabolic process cytosol arylamine N-acetyltransferase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1) 9 Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208) TCTGGGAAGGATCAGCCTCAG 0.473000 4 121 0 0 0.009096 0 0 DHRS7 51635 broad.mit.edu 37 14 60619882 60619882 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr14:60619882G>A ENST00000216500.5 - 5 863 c.408C>T c.(406-408)gtC>gtT p.V136V PCNXL4_ENST00000553898.1_Intron|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Silent_p.V136V|DHRS7_ENST00000536410.2_Silent_p.V86V Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 136 binding|oxidoreductase activity endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) CACCATTGTTGACCAGAATGT 0.423000 13 48 0 0 0.013537 0 0 FGFR2 2263 broad.mit.edu 37 10 123353267 123353267 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:123353267C>T ENST00000358487.5 - 2 337 c.65G>A c.(64-66)cGg>cAg p.R22Q FGFR2_ENST00000490349.1_5'UTR|FGFR2_ENST00000351936.6_Missense_Mutation_p.R22Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000357555.5_Missense_Mutation_p.R22Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.R22Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.R22Q|FGFR2_ENST00000359354.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.R22Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.R22Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.R22Q NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 22 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GAAGGAGGGCCGGGCCAGGGA 0.502000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 21 45 0 0 0.002780 0 0 GJA9 81025 broad.mit.edu 37 1 39340782 39340782 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:39340782G>C ENST00000454994.2 - 2 1265 c.989C>G c.(988-990)tCt>tGt p.S330C RP5-864K19.4_ENST00000456813.1_RNA|MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Missense_Mutation_p.S330C|GJA9_ENST00000357771.3_Missense_Mutation_p.S330C|RP5-864K19.4_ENST00000433671.2_RNA P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 330 cell communication connexon complex|integral to membrane breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AATCTCATTAGAAAGTACAGT 0.313000 5 77 0 0 0.000602 0 0 SSH2 85464 broad.mit.edu 37 17 27963225 27963225 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:27963225C>G ENST00000269033.3 - 14 2093 c.1942G>C c.(1942-1944)Gat>Cat p.D648H RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Missense_Mutation_p.D675H NM_001282129.1|NM_033389.2 NP_001269058.1|NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 648 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAATGCGATCTGTACTGAAA 0.498000 3 124 0 0 0.004672 0 0 KITLG 4254 broad.mit.edu 37 12 88912549 88912549 + Silent SNP A A G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr12:88912549A>G ENST00000347404.5 - 4 860 c.288T>C c.(286-288)agT>agC p.S96S KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Silent_p.S96S|KITLG_ENST00000378535.4_5'UTR NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 96 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 TGGAATAATTACTCAAGCCTT 0.378000 Testicular Cancer, Familial Clustering of 15 34 0 0 0.004990 0 0 SLC39A12 221074 broad.mit.edu 37 10 18242228 18242228 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:18242228C>T ENST00000377369.2 + 2 296 c.23C>T c.(22-24)tCa>tTa p.S8L SLC39A12_ENST00000377374.4_Missense_Mutation_p.S8L|SLC39A12_ENST00000539911.1_Intron|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S8L NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 8 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 ACAAAGCTCTCAGTATCCTGG 0.502000 11 200 0 0 0.008291 0 0 LAMA2 3908 broad.mit.edu 37 6 129691064 129691064 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:129691064G>A ENST00000421865.2 + 34 4937 c.4888G>A c.(4888-4890)Gag>Aag p.E1630K NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1630 Domain II and I. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GCGGGCCCCAGAGAGGCTTAT 0.458000 20 50 0 0 0.012319 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250655 140250655 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:140250655C>T ENST00000398640.2 + 1 1967 c.1967C>T c.(1966-1968)cCg>cTg p.P656L PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACGGTGAGCCGGCGCTGACG 0.677000 12 68 0 0 0.010729 0 0 TFAP2A 7020 broad.mit.edu 37 6 10410338 10410338 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:10410338C>T ENST00000379613.3 - 2 538 c.282G>A c.(280-282)caG>caA p.Q94Q TFAP2A_ENST00000482890.1_Silent_p.Q92Q|TFAP2A_ENST00000379604.2_Silent_p.Q92Q|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000379608.3_Silent_p.Q86Q|TFAP2A-AS1_ENST00000420777.1_RNA|TFAP2A_ENST00000319516.4_Silent_p.Q88Q P05549 AP2A_HUMAN transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 92 Gln/Pro-rich (transactivation domain). ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter centrosome|Golgi apparatus|nucleus chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 13 Breast(50;0.0427)|Ovarian(93;0.0991) all_hematologic(90;0.107) AGCCTGGGTGCTGCGGCTGCG 0.692000 10 61 0 0 0.010729 0 0 NEK11 79858 broad.mit.edu 37 3 130828651 130828651 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:130828651G>T ENST00000383366.4 + 5 634 c.341G>T c.(340-342)cGa>cTa p.R114L NEK11_ENST00000412440.2_5'UTR|NEK11_ENST00000510688.1_Missense_Mutation_p.R114L|NEK11_ENST00000511262.1_Missense_Mutation_p.R114L|NEK11_ENST00000426022.2_3'UTR|NEK11_ENST00000356918.4_Missense_Mutation_p.R114L|NEK11_ENST00000510769.1_Missense_Mutation_p.R114L|NEK11_ENST00000429253.2_Missense_Mutation_p.R114L|NEK11_ENST00000508196.1_Missense_Mutation_p.R114L|NEK11_ENST00000507910.1_Missense_Mutation_p.R114L NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 114 Protein kinase. cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 TTTCAGGGCCGAGATCTGGAC 0.333000 12 96 7.03913e-09 8.02133e-09 0.013537 1 0 TRPV5 56302 broad.mit.edu 37 7 142605800 142605800 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr7:142605800C>T ENST00000265310.1 - 15 2418 c.2070G>A c.(2068-2070)cgG>cgA p.R690R NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 690 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) GGGACGCGGTCCGGGACAGGG 0.582000 5 105 0 0 0.000602 0 0 CLPX 10845 broad.mit.edu 37 15 65447361 65447361 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:65447361G>A ENST00000300107.3 - 11 1558 c.1370C>T c.(1369-1371)gCa>gTa p.A457V NM_006660.3 NP_006651.2 O76031 CLPX_HUMAN caseinolytic mitochondrial matrix peptidase chaperone subunit 457 protein folding|proteolysis involved in cellular protein catabolic process mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2) 16 AGCAAGGTCTGCAGCAGCTGC 0.408000 14 58 0 0 0.001855 0 0 MOCOS 55034 broad.mit.edu 37 18 33795828 33795828 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:33795828G>A ENST00000261326.5 + 8 1706 c.1685G>A c.(1684-1686)aGa>aAa p.R562K NM_017947.2 NP_060417.2 Q96EN8 MOCOS_HUMAN molybdenum cofactor sulfurase 562 Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Pyridoxal Phosphate(DB00114) GATGTCGCCAGAACCCAGCCG 0.552000 5 78 0 0 0.001168 0 0 TAS2R5 54429 broad.mit.edu 37 7 141490167 141490167 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr7:141490167G>A ENST00000247883.4 + 1 151 c.6G>A c.(4-6)ctG>ctA p.L2L NM_018980.2 NP_061853.1 Q9NYW4 TA2R5_HUMAN taste receptor, type 2, member 5 2 chemosensory behavior|sensory perception of taste taste receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1) 9 Melanoma(164;0.0171) CAGCCATGCTGAGCGCTGGCC 0.512000 4 112 0 0 0.000602 0 0 NRG1 3084 broad.mit.edu 37 8 32616847 32616847 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:32616847C>G ENST00000338921.4 + 11 1495 c.978C>G c.(976-978)atC>atG p.I326M NRG1_ENST00000287845.5_Missense_Mutation_p.I289M|NRG1_ENST00000523079.1_Missense_Mutation_p.I315M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000519301.1_Missense_Mutation_p.I268M|NRG1_ENST00000539990.1_Missense_Mutation_p.I161M|NRG1_ENST00000356819.4_Missense_Mutation_p.I323M|NRG1_ENST00000287842.3_Missense_Mutation_p.I315M|NRG1_ENST00000521670.1_Missense_Mutation_p.I318M|NRG1_ENST00000405005.3_Missense_Mutation_p.I318M Q02297 NRG1_HUMAN neuregulin 1 318 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) AAAACGTCATCTCCAGTGAGC 0.403000 17 63 0 0 0.004990 0 0 SMC4 10051 broad.mit.edu 37 3 160137215 160137215 + Nonsense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:160137215C>T ENST00000357388.3 + 12 2192 c.1741C>T c.(1741-1743)Caa>Taa p.Q581* RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Nonsense_Mutation_p.Q581*|SMC4_ENST00000462787.1_Nonsense_Mutation_p.Q581*|SMC4_ENST00000469762.1_Nonsense_Mutation_p.Q556*|SMC4_ENST00000344722.5_Nonsense_Mutation_p.Q581* NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 581 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) TGATCTCTTTCAAAAAGTTGA 0.323000 5 70 0 0 0.001168 0 0 SPTA1 6708 broad.mit.edu 37 1 158646079 158646079 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:158646079C>T ENST00000368147.4 - 8 1144 c.964G>A c.(964-966)Gag>Aag p.E322K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) GCACATAACTCCTTCACCTTT 0.438000 19 122 0 0 0.010504 0 0 PDGFRB 5159 broad.mit.edu 37 5 149513181 149513181 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:149513181T>C ENST00000261799.4 - 6 1371 c.902A>G c.(901-903)cAg>cGg p.Q301R NM_002609.3 NP_002600.1 P09619 PGFRB_HUMAN platelet-derived growth factor receptor, beta polypeptide 301 Ig-like C2-type 3. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1) 75 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) CTTTTCATCCTGATGGTCATT 0.557000 T """ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP""" """MPD, AML, CMML, CML""" 5 319 0 0 0.001984 0 0 HERC1 8925 broad.mit.edu 37 15 63984690 63984690 + Nonsense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:63984690G>C ENST00000443617.2 - 31 5837 c.5750C>G c.(5749-5751)tCa>tGa p.S1917* RP11-317G6.1_ENST00000559303.2_RNA NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 1917 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 AATTGCTTTTGAAGATACAAC 0.403000 5 75 0 0 0.000602 0 0 PSEN1 5663 broad.mit.edu 37 14 73664744 73664744 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr14:73664744G>A ENST00000324501.5 + 8 1047 c.775G>A c.(775-777)Gtg>Atg p.V259M PSEN1_ENST00000394164.1_Missense_Mutation_p.V255M|PSEN1_ENST00000344094.3_Missense_Mutation_p.V259M|PSEN1_ENST00000406768.1_Missense_Mutation_p.V167M|PSEN1_ENST00000557511.1_Missense_Mutation_p.V259M|PSEN1_ENST00000357710.4_Missense_Mutation_p.V255M|PSEN1_ENST00000261970.3_Missense_Mutation_p.V259M NM_000021.3|NM_007318.2 NP_000012.1|NP_015557.2 P49768 PSN1_HUMAN presenilin 1 259 amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075) TCTAGATTTAGTGGCTGTTTT 0.368000 4 34 0 0 0.009096 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161457 25161457 + RNA SNP G G A rs1851732 by1000genomes TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr13:25161457G>A ENST00000453498.1 + 0 981 TPTE2P6_ENST00000440905.1_RNA TTATTTATTCGATTCGTGGTA 0.378000 5 37 0 0 0.001984 0 0 PLVAP 83483 broad.mit.edu 37 19 17476167 17476167 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:17476167C>G ENST00000252590.4 - 3 1168 c.1107G>C c.(1105-1107)aaG>aaC p.K369N NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 369 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CCGCCTCCCTCTTCTTCTCTT 0.617000 3 101 0 0 0.004672 0 0 SH3D19 152503 broad.mit.edu 37 4 152065413 152065413 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr4:152065413C>T ENST00000304527.4 - 12 2359 c.1270G>A c.(1270-1272)Gaa>Aaa p.E424K SH3D19_ENST00000409252.2_Missense_Mutation_p.E424K|SH3D19_ENST00000409598.4_Intron|SH3D19_ENST00000427414.2_Intron|SH3D19_ENST00000514152.1_Intron|SH3D19_ENST00000455740.1_Intron|SH3D19_ENST00000424281.1_Intron NM_001009555.3 NP_001009555.3 Q5HYK7 SH319_HUMAN SH3 domain containing 19 424 SH3 1. cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) ACAATATCTTCATTGGCAATT 0.363000 14 183 0 0 0.002450 0 0 ARSD 414 broad.mit.edu 37 X 2828744 2828744 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:2828744C>G ENST00000381154.1 - 7 1166 c.1091G>C c.(1090-1092)aGa>aCa p.R364T NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 364 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTGTCCATCTCTTGCCTCTAA 0.443000 4 251 0 0 0.009096 0 0 TRIM25 7706 broad.mit.edu 37 17 54991298 54991298 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:54991298C>T ENST00000316881.4 - 1 101 c.52G>A c.(52-54)Gag>Aag p.E18K TRIM25_ENST00000537230.1_Missense_Mutation_p.E18K NM_005082.4 NP_005073.2 Q14258 TRI25_HUMAN tripartite motif containing 25 18 innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus cell junction|cytosol|nucleus sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(9;6.15e-08) TTGAAGGGCTCCAGGCAGATG 0.682000 4 13 0 0 0.009096 0 0 ZXDB 158586 broad.mit.edu 37 X 57619097 57619097 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:57619097G>A ENST00000374888.1 + 1 829 c.616G>A c.(616-618)Ggg>Agg p.G206R NM_007157.3 NP_009088.1 P98169 ZXDB_HUMAN zinc finger, X-linked, duplicated B 206 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.G206R(2) NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6) 27 CCAGCAGCCCGGGTGTCTGAT 0.711000 3 38 0 0 0.000602 0 0 RYR2 6262 broad.mit.edu 37 1 237765404 237765404 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:237765404G>C ENST00000366574.2 + 35 4993 c.4676G>C c.(4675-4677)aGa>aCa p.R1559T RYR2_ENST00000542537.1_Missense_Mutation_p.R1543T|RYR2_ENST00000360064.6_Missense_Mutation_p.R1557T NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1559 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GAGTTGGGAAGAATAAAGGTA 0.303000 5 35 0 0 0.000602 0 0 ANKFN1 162282 broad.mit.edu 37 17 54450013 54450013 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:54450013G>T ENST00000566473.2 + 6 617 c.617G>T c.(616-618)aGc>aTc p.S206I ANKFN1_ENST00000318698.2_Missense_Mutation_p.S206I Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain containing 1 206 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 TTAGTTGTCAGCCTGGAAAGC 0.463000 27 103 1.77063e-15 2.07811e-15 0.005443 1 0 IL12B 3593 broad.mit.edu 37 5 158750185 158750185 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:158750185C>G ENST00000231228.2 - 3 696 c.241G>C c.(241-243)Gag>Cag p.E81Q NM_002187.2 NP_002178.2 P29460 IL12B_HUMAN interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) 81 Ig-like C2-type. cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation interleukin-12 complex|interleukin-23 complex|membrane cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity cervix(1)|endometrium(1)|large_intestine(5)|lung(4) 11 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCTCCAAACTCTTTGACTTGG 0.517000 3 61 0 0 0.004672 0 0 OTOP1 133060 broad.mit.edu 37 4 4190623 4190623 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr4:4190623G>A ENST00000296358.4 - 6 1770 c.1746C>T c.(1744-1746)ccC>ccT p.P582P NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 582 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) CAATTATCCAGGGTTCAAAGC 0.463000 16 121 0 0 0.008361 0 0 DGKK 139189 broad.mit.edu 37 X 50213512 50213512 + RNA SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:50213512C>G ENST00000376025.2 - 0 225 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GGACAGGGCTCTGGTATGGGT 0.677000 18 101 0 0 0.004990 0 0 LMCD1 29995 broad.mit.edu 37 3 8590590 8590590 + Splice_Site SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:8590590G>A ENST00000157600.3 + 4 955 c.e4+1 LMCD1_ENST00000454244.1_Splice_Site|LMCD1_ENST00000535732.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000397386.3_Splice_Site NM_014583.2 NP_055398.1 Q9NZU5 LMCD1_HUMAN LIM and cysteine-rich domains 1 positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent cytoplasm|extracellular space|nucleus transcription corepressor activity|zinc ion binding breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1) 16 OV - Ovarian serous cystadenocarcinoma(96;0.124) AGTGGAATACGTAAGTTTCTC 0.572000 6 10 0 0 0.001168 0 0 LAS1L 81887 broad.mit.edu 37 X 64749124 64749124 + Missense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:64749124G>T ENST00000374811.3 - 6 854 c.814C>A c.(814-816)Ctg>Atg p.L272M LAS1L_ENST00000312391.8_Missense_Mutation_p.L272M|LAS1L_ENST00000374807.5_Missense_Mutation_p.L272M|LAS1L_ENST00000374804.5_Missense_Mutation_p.L230M NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 272 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 GATACCAGCAGTTCTCGGGCT 0.522000 OREG0019826 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 33 4.35082e-09 4.9869e-09 0.010504 1 0 ZFPM2 23414 broad.mit.edu 37 8 106573710 106573710 + Splice_Site SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:106573710G>A ENST00000407775.2 + 4 670 c.e4+1 ZFPM2_ENST00000520492.1_Splice_Site|ZFPM2_ENST00000517361.1_Splice_Site NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) TAATTCTTTGGTATGTGGATA 0.408000 21 16 0 0 0.010504 0 0 GAPT 202309 broad.mit.edu 37 5 57790716 57790716 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:57790716C>G ENST00000396776.2 + 3 815 c.353C>G c.(352-354)tCt>tGt p.S118C GAPT_ENST00000318469.2_Missense_Mutation_p.S118C NM_152687.2 NP_689900.1 Q8N292 GAPT_HUMAN GRB2-binding adaptor protein, transmembrane 118 B cell activation integral to membrane|plasma membrane NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1) 7 ACAGGGCAGTCTAATTTCGAG 0.398000 15 99 0 0 0.003163 0 0 PELI3 246330 broad.mit.edu 37 11 66241241 66241241 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr11:66241241C>T ENST00000349459.6 + 6 897 c.613C>T c.(613-615)Ctg>Ttg p.L205L CTD-3074O7.5_ENST00000527092.1_RNA|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Silent_p.L229L|PELI3_ENST00000320740.7_Silent_p.L229L NM_001098510.1 NP_001091980.1 Q8N2H9 PELI3_HUMAN pellino E3 ubiquitin protein ligase family member 3 229 cytosol protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1) 15 CCCAGATGGCCTGATGGATGG 0.657000 3 69 0 0 0.004672 0 0 LOC644669 644669 broad.mit.edu 37 18 15323336 15323336 + RNA SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:15323336G>A ENST00000455308.2 - 0 512 NR_027417.1 TTTCCTTATGGCCAATAAAAG 0.289000 4 6 0 0 0.000602 0 0 TRIM11 81559 broad.mit.edu 37 1 228589812 228589812 + Silent SNP C C T rs148386528 TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:228589812C>T ENST00000493030.2 - 1 3793 c.84G>A c.(82-84)gcG>gcA p.A28A TRIM11_ENST00000366699.3_Silent_p.A153A|TRIM11_ENST00000284551.6_Silent_p.A153A Q96F44 TRI11_HUMAN tripartite motif containing 11 153 response to virus cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 18 Prostate(94;0.0724) GGAACAGCAACGCATCCTGCA 0.627000 4 26 0 0 0.009096 0 0 ODF2 4957 broad.mit.edu 37 9 131243909 131243909 + Silent SNP G G A rs150687097 TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr9:131243909G>A ENST00000434106.3 + 9 1257 c.894G>A c.(892-894)gcG>gcA p.A298A ODF2_ENST00000604420.1_Silent_p.A298A|ODF2_ENST00000393527.3_Silent_p.A274A|ODF2_ENST00000535026.1_3'UTR|ODF2_ENST00000448249.3_Silent_p.A217A|ODF2_ENST00000372807.5_Silent_p.A293A|ODF2_ENST00000372791.3_Silent_p.A279A|ODF2_ENST00000351030.3_Silent_p.A293A|ODF2_ENST00000444119.2_Silent_p.A274A|ODF2_ENST00000372814.3_Silent_p.A342A|ODF2_ENST00000546203.1_Silent_p.A279A|ODF2_ENST00000393533.2_Silent_p.A298A NM_153433.1 NP_702911.1 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 AACGGCTGGCGGAGGCCGACT 0.483000 5 42 0 0 0.000602 0 0 PLA2G2E 30814 broad.mit.edu 37 1 20246922 20246922 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:20246922G>A ENST00000375116.3 - 4 364 c.307C>T c.(307-309)Cgg>Tgg p.R103W NM_014589.1 NP_055404.1 Q9NZK7 PA2GE_HUMAN phospholipase A2, group IIE 103 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity breast(1)|endometrium(1)|large_intestine(1)|lung(6)|urinary_tract(1) 10 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|GBM - Glioblastoma multiforme(114;0.000146)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CAGGTCAGCCGCTGGCAGGTG 0.592000 11 57 0 0 0.013537 0 0 LOC644669 644669 broad.mit.edu 37 18 15323340 15323340 + RNA SNP A A G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:15323340A>G ENST00000455308.2 - 0 508 NR_027417.1 CTTATGGCCAATAAAAGTGGT 0.299000 4 7 0 0 0.000602 0 0 USP17L2 377630 broad.mit.edu 37 8 11996072 11996072 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:11996072C>T ENST00000333796.3 - 1 514 c.198G>A c.(196-198)aaG>aaA p.K66K FAM66D_ENST00000434078.2_RNA NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2 NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2 Q6R6M4 U17L2_HUMAN ubiquitin specific peptidase 17-like family member 2 66 K -> E (in Ref. 1; AAR91701). apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 29 GAGGAAGCTTCTTCCTGGGAG 0.567000 8 94 0 0 0.003080 0 0 KITLG 4254 broad.mit.edu 37 12 88912550 88912550 + Missense_Mutation SNP C C A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr12:88912550C>A ENST00000347404.5 - 4 859 c.287G>T c.(286-288)aGt>aTt p.S96I KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.S96I|KITLG_ENST00000378535.4_5'UTR NM_003994.5 NP_003985.2 P21583 SCF_HUMAN KIT ligand 96 cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction cytoplasm|cytoskeleton|integral to membrane|plasma membrane growth factor activity|identical protein binding|stem cell factor receptor binding kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1) 9 GGAATAATTACTCAAGCCTTC 0.378000 Testicular Cancer, Familial Clustering of 15 35 0.000422831 0.00046822 0.004007 1 0 ATRAID 51374 broad.mit.edu 37 2 27439745 27439745 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr2:27439745C>T ENST00000380171.3 + 7 961 c.784C>T c.(784-786)Ctg>Ttg p.L262L ATRAID_ENST00000405489.3_Silent_p.L149L|ATRAID_ENST00000606999.1_Silent_p.L207L NM_080592.3 NP_542159.3 all-trans retinoic acid-induced differentiation factor CTTCGGGATTCTGGGAGCCAC 0.502000 33 65 0 0 0.005524 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64589991 64589991 + Nonsense_Mutation SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:64589991G>T ENST00000498707.1 - 24 3833 c.3491C>A c.(3490-3492)tCa>tAa p.S1164* ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.S1136* NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1164 TSP type-1 6. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) AGGATGACATGATGGTAATTC 0.458000 16 73 4.96729e-08 5.59534e-08 0.008871 1 0 AKAP11 11215 broad.mit.edu 37 13 42882729 42882729 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr13:42882729C>T ENST00000025301.2 + 9 5432 c.5257C>T c.(5257-5259)Cat>Tat p.H1753Y NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1753 Ser-rich. intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CAGCAGTTTTCATCATCTAAG 0.353000 10 60 0 0 0.008291 0 0 TDRD6 221400 broad.mit.edu 37 6 46660917 46660917 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:46660917G>C ENST00000544460.1 + 1 5306 c.5052G>C c.(5050-5052)ttG>ttC p.L1684F TDRD6_ENST00000316081.6_Missense_Mutation_p.L1684F NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 1684 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TTGTTGACTTGAAAAGCAAAG 0.303000 5 34 0 0 0.000602 0 0 CDK7 1022 broad.mit.edu 37 5 68548275 68548275 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr5:68548275G>C ENST00000256443.3 + 3 260 c.157G>C c.(157-159)Gat>Cat p.D53H CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000514676.1_Missense_Mutation_p.D53H NM_001799.3 NP_001790.1 P50613 CDK7_HUMAN cyclin-dependent kinase 7 53 Protein kinase. androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) AGAAGCTAAAGATGGTAAGTA 0.264000 Nucleotide excision repair (NER) 3 84 0 0 0.004672 0 0 NRG4 145957 broad.mit.edu 37 15 76254308 76254308 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr15:76254308C>T ENST00000394907.3 - 4 293 c.112G>A c.(112-114)Gaa>Aaa p.E38K NRG4_ENST00000535975.1_Missense_Mutation_p.E38K NM_138573.3 NP_612640.1 Q8WWG1 NRG4_HUMAN neuregulin 4 38 EGF-like. extracellular region|integral to membrane|plasma membrane growth factor activity large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 GTATAGTTTTCAACGCACCTA 0.388000 21 107 0 0 0.008871 0 0 CNTN4 152330 broad.mit.edu 37 3 3078912 3078912 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:3078912G>C ENST00000397461.1 + 17 2376 c.1992G>C c.(1990-1992)ttG>ttC p.L664F CNTN4_ENST00000418658.1_Missense_Mutation_p.L664F|CNTN4_ENST00000427331.1_Missense_Mutation_p.L664F|CNTN4_ENST00000397459.2_Missense_Mutation_p.L336F|CNTN4_ENST00000448906.2_Missense_Mutation_p.L336F|CNTN4_ENST00000358480.3_Missense_Mutation_p.L445F NM_001206955.1 NP_001193884.1 Q8IWV2 CNTN4_HUMAN contactin 4 664 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TGGTGGGTTTGAACCCTTGGG 0.502000 12 293 0 0 0.010729 0 0 PTPRF 5792 broad.mit.edu 37 1 44071029 44071029 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:44071029C>T ENST00000359947.4 + 18 3644 c.3304C>T c.(3304-3306)Cac>Tac p.H1102Y PTPRF_ENST00000372414.3_Missense_Mutation_p.H1102Y|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.H1093Y|PTPRF_ENST00000422171.2_Missense_Mutation_p.H450Y|PTPRF_ENST00000372413.3_Missense_Mutation_p.H1093Y NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 1102 transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTCCTGCCTCACAAGCCGCT 0.632000 10 43 0 0 0.008291 0 0 TMEM239 100288797 broad.mit.edu 37 20 2795885 2795885 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr20:2795885C>T ENST00000380593.4 + 2 138 c.55C>T c.(55-57)Cct>Tct p.P19S TMEM239_ENST00000554164.1_Missense_Mutation_p.P19S|C20orf141_ENST00000603872.1_Missense_Mutation_p.P19S|C20orf141_ENST00000380589.4_Missense_Mutation_p.P19S Q8WW34 Q8WW34_HUMAN transmembrane protein 239 0 GATCCCAGTTCCTCCAAGGGG 0.617000 9 156 0 0 0.004482 0 0 C1orf64 149563 broad.mit.edu 37 1 16332663 16332663 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:16332663C>T ENST00000329454.2 + 2 400 c.332C>T c.(331-333)cCg>cTg p.P111L RP11-5P18.5_ENST00000437156.1_RNA NM_178840.2 NP_849162.1 Q8NEQ6 CA064_HUMAN chromosome 1 open reading frame 64 111 breast(2)|endometrium(1)|lung(3) 6 Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649) GCCACCCTGCCGCTCTGCAGA 0.647000 8 67 0 0 0.004482 0 0 RSPH6A 81492 broad.mit.edu 37 19 46307611 46307611 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:46307611C>T ENST00000221538.3 - 3 1694 c.1552G>A c.(1552-1554)Gac>Aac p.D518N RSPH6A_ENST00000600188.1_Missense_Mutation_p.D254N|RSPH6A_ENST00000597055.1_Missense_Mutation_p.D518N NM_030785.3 NP_110412.1 Q9H0K4 RSH6A_HUMAN radial spoke head 6 homolog A (Chlamydomonas) 518 Glu-rich. intracellular central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 32 TCGTAGGAGTCGCGCCCAGCA 0.647000 12 88 0 0 0.013537 0 0 PI15 51050 broad.mit.edu 37 8 75757469 75757469 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:75757469G>A ENST00000260113.2 + 4 678 c.499G>A c.(499-501)Ggt>Agt p.G167S RP11-758M4.4_ENST00000522914.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.G167S NM_015886.3 NP_056970.1 O43692 PI15_HUMAN peptidase inhibitor 15 167 extracellular region peptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1) 30 Breast(64;0.137) BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118) GAGATGTTTTGGTCCCATGTG 0.368000 19 97 0 0 0.002780 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789394 117789394 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr11:117789394G>A ENST00000528626.1 - 2 254 c.181C>T c.(181-183)Cca>Tca p.P61S TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P61S|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P61S|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P61S|TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P61S NM_001206789.1 NP_001193718.1 Q9BYE2 TMPSD_HUMAN transmembrane protease, serine 13 61 12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) GTACCAGCTGGAGATGCCTGG 0.697000 7 86 0 0 0.003080 0 0 RRP12 23223 broad.mit.edu 37 10 99148350 99148350 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr10:99148350G>A ENST00000370992.4 - 7 896 c.785C>T c.(784-786)tCa>tTa p.S262L RRP12_ENST00000536831.1_Intron|RRP12_ENST00000414986.1_Missense_Mutation_p.S201L|RRP12_ENST00000315563.6_Missense_Mutation_p.S162L NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 262 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CTTGAGGACTGAGCATACTCC 0.552000 8 41 0 0 0.003080 0 0 CLVS2 134829 broad.mit.edu 37 6 123332247 123332247 + Missense_Mutation SNP C C A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:123332247C>A ENST00000275162.5 + 3 1842 c.507C>A c.(505-507)ttC>ttA p.F169L CLVS2_ENST00000368438.1_Missense_Mutation_p.F23L NM_001010852.3 NP_001010852.2 Q5SYC1 CLVS2_HUMAN clavesin 2 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 ACTTCACTTTCAAGCAAGCCT 0.413000 9 58 0.000274275 0.000305443 0.004482 1 0 SMARCA4 6597 broad.mit.edu 37 19 11094864 11094864 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:11094864C>T ENST00000358026.2 + 2 321 c.37C>T c.(37-39)Cgg>Tgg p.R13W SMARCA4_ENST00000429416.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R13W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R13W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R13W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R13W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R13W NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 13 Necessary for interaction with SS18L1/CREST (By similarity). chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGGAACTCCTCGGCCAGGTCC 0.687000 """F, N, Mis""" NSCLC 13 56 0 0 0.002450 0 0 COL6A1 1291 broad.mit.edu 37 21 47423837 47423837 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr21:47423837C>T ENST00000361866.3 + 35 3111 c.2997C>T c.(2995-2997)ggC>ggT p.G999G COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 999 C-terminal globular domain.|VWFA 3. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) TGGCCTACGGCGAGAGCCACC 0.667000 11 102 0 0 0.010729 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128742 45128742 + RNA SNP T T G rs34655963 by1000genomes TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr17:45128742T>G ENST00000575173.1 - 0 418 TAATGATTTTTATTATACTTT 0.328000 4 75 0 0 0.009096 0 0 SRD5A2 6716 broad.mit.edu 37 2 31754425 31754425 + RNA SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr2:31754425G>T ENST00000405650.1 - 0 815 AL133247.2_ENST00000435713.1_RNA P31213 S5A2_HUMAN steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development endoplasmic reticulum membrane|integral to membrane|microsome 3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity Acute lymphoblastic leukemia(172;0.155) Azelaic Acid(DB00548)|Dutasteride(DB01126) TGAGAAAAATGCAAATGCAAG 0.458000 16 25 1.5739e-10 1.81461e-10 0.004007 1 0 CDH20 28316 broad.mit.edu 37 18 59166706 59166706 + Silent SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr18:59166706C>T ENST00000262717.4 + 3 932 c.534C>T c.(532-534)tcC>tcT p.S178S CDH20_ENST00000536675.2_Silent_p.S178S|CDH20_ENST00000538374.1_Silent_p.S178S Q9HBT6 CAD20_HUMAN cadherin 20, type 2 178 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CAGAAATGTCCCCTGTGGGTA 0.458000 12 39 0 0 0.001855 0 0 BAI2 576 broad.mit.edu 37 1 32205620 32205620 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:32205620C>T ENST00000373658.3 - 14 2415 c.2074G>A c.(2074-2076)Gtg>Atg p.V692M BAI2_ENST00000398542.1_Missense_Mutation_p.V625M|BAI2_ENST00000527361.1_Missense_Mutation_p.V692M|BAI2_ENST00000398538.1_Missense_Mutation_p.V680M|BAI2_ENST00000440175.2_Missense_Mutation_p.V334M|BAI2_ENST00000398547.1_Missense_Mutation_p.V625M|BAI2_ENST00000398556.3_Missense_Mutation_p.V640M|BAI2_ENST00000373655.2_Missense_Mutation_p.V692M|BAI2_ENST00000257070.4_Missense_Mutation_p.V692M NM_001703.2 NP_001694.2 O60241 BAI2_HUMAN brain-specific angiogenesis inhibitor 2 692 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 55 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174) STAD - Stomach adenocarcinoma(196;0.0557) AGCAGGTGCACAGAGCCAGGG 0.587000 11 54 0 0 0.010729 0 0 CEP41 95681 broad.mit.edu 37 7 130039926 130039926 + Missense_Mutation SNP C C G TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr7:130039926C>G ENST00000223208.5 - 10 1197 c.927G>C c.(925-927)aaG>aaC p.K309N CEP41_ENST00000541543.1_Intron|CEP41_ENST00000343969.5_Intron NM_001257158.1|NM_018718.2 NP_001244087.1|NP_061188.1 Q9BYV8 CEP41_HUMAN centrosomal protein 41kDa G2/M transition of mitotic cell cycle centrosome|cytosol AATATTCTATCTTTTTTAAGT 0.453000 76 107 0 0 0.014410 0 0 SPTA1 6708 broad.mit.edu 37 1 158596663 158596663 + Silent SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:158596663G>A ENST00000368147.4 - 41 5979 c.5799C>T c.(5797-5799)ttC>ttT p.F1933F NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CCTTCCAGTTGAATTCCTGAA 0.458000 27 136 0 0 0.010818 0 0 LRBA 987 broad.mit.edu 37 4 151729481 151729481 + Nonsense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr4:151729481G>C ENST00000535741.1 - 32 5848 c.5375C>G c.(5374-5376)tCa>tGa p.S1792* LRBA_ENST00000357115.3_Nonsense_Mutation_p.S1792*|LRBA_ENST00000507224.1_Nonsense_Mutation_p.S1792*|LRBA_ENST00000510413.1_Nonsense_Mutation_p.S1792* P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1792 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) CCTCATATTTGAAACCGGATC 0.303000 18 50 0 0 0.007413 0 0 POGZ 23126 broad.mit.edu 37 1 151378506 151378506 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:151378506C>T ENST00000271715.2 - 19 3319 c.3005G>A c.(3004-3006)cGt>cAt p.R1002H POGZ_ENST00000392723.1_Missense_Mutation_p.R949H|POGZ_ENST00000368863.2_Missense_Mutation_p.R907H|POGZ_ENST00000409503.1_Missense_Mutation_p.R993H|POGZ_ENST00000361398.3_Missense_Mutation_p.R949H|POGZ_ENST00000491586.1_Missense_Mutation_p.R958H|POGZ_ENST00000540984.1_Missense_Mutation_p.R364H|POGZ_ENST00000531094.1_Missense_Mutation_p.R940H NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 1002 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACGGCGAATACGTCGCTGGGG 0.512000 22 199 0 0 0.012319 0 0 TAAR1 134864 broad.mit.edu 37 6 132966336 132966336 + Silent SNP G G T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:132966336G>T ENST00000275216.1 - 1 806 c.807C>A c.(805-807)atC>atA p.I269I NM_138327.1 NP_612200.1 Q96RJ0 TAAR1_HUMAN trace amine associated receptor 1 269 plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11) 18 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154) Amphetamine(DB00182) TGACTGTACAGATAAAGAAAG 0.368000 24 33 1.64293e-13 1.91676e-13 0.003330 1 0 ADAR 103 broad.mit.edu 37 1 154600401 154600401 + Missense_Mutation SNP A A C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:154600401A>C ENST00000292205.5 - 1 73 c.74T>G c.(73-75)gTg>gGg p.V25G ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR NM_001025107.2|NM_001193495.1 NP_001020278.1|NP_001180424.1 P55265 DSRAD_HUMAN adenosine deaminase, RNA-specific 0 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) CCCTCCCCCCACCCTCCCCCA 0.642000 12 135 0 0 0.010504 0 0 COG8 84342 broad.mit.edu 37 16 69373204 69373204 + Missense_Mutation SNP G G C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr16:69373204G>C ENST00000306875.4 - 1 366 c.252C>G c.(250-252)ttC>ttG p.F84L COG8_ENST00000562081.1_Missense_Mutation_p.F84L|RP11-343C2.9_ENST00000563634.1_Intron|RP11-343C2.7_ENST00000564737.1_Intron NM_032382.4 NP_115758.3 Q96MW5 COG8_HUMAN component of oligomeric golgi complex 8 84 protein transport Golgi membrane|Golgi transport complex breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1) 9 TGTAGTTAGCGAAGGCCAAGT 0.716000 4 30 0 0 0.009096 0 0 MUC16 94025 broad.mit.edu 37 19 9090712 9090712 + Missense_Mutation SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:9090712T>C ENST00000397910.4 - 1 1306 c.1103A>G c.(1102-1104)cAt>cGt p.H368R NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 368 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AGCGAAGGCATGGAAGGTAAG 0.502000 11 34 0 0 0.010729 0 0 DMD 1756 broad.mit.edu 37 X 32235111 32235111 + Silent SNP T T C TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:32235111T>C ENST00000357033.4 - 44 6566 c.6360A>G c.(6358-6360)ctA>ctG p.L2120L DMD_ENST00000378677.2_Silent_p.L2116L NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2120 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) CAGCTTCTGTTAGCCACTGAT 0.343000 13 19 0 0 0.013537 0 0 SCGB2B2 284402 broad.mit.edu 37 19 35085106 35085106 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:35085106C>T ENST00000601241.1 - 3 2320 c.220G>A c.(220-222)Gaa>Aaa p.E74K SCGB2B2_ENST00000379204.2_Missense_Mutation_p.E74K|SCGB2B2_ENST00000595326.1_Intron Q4G0G5 SCGBL_HUMAN secretoglobin, family 2B, member 2 74 extracellular region binding GCAAATCTTTCTGTCACGGAG 0.542000 17 175 0 0 0.008871 0 0 NBN 4683 broad.mit.edu 37 8 90993117 90993117 + Missense_Mutation SNP C C T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr8:90993117C>T ENST00000265433.3 - 4 479 c.325G>A c.(325-327)Gag>Aag p.E109K NBN_ENST00000409330.1_Missense_Mutation_p.E27K NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 109 BRCT. cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) GGCTCATACTCTATTCTGTAA 0.328000 Homologous recombination 5 20 0 0 0.000602 0 0 FREM1 158326 broad.mit.edu 37 9 14808019 14808019 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr9:14808019G>A ENST00000380881.4 - 18 3825 c.3010C>T c.(3010-3012)Cca>Tca p.P1004S FREM1_ENST00000422223.2_Missense_Mutation_p.P1003S|FREM1_ENST00000380880.3_Missense_Mutation_p.P1003S Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 1003 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) GCATGAAGTGGAACAGATGGA 0.463000 20 149 0 0 0.008871 0 0 TCHH 7062 broad.mit.edu 37 1 152081768 152081768 + Frame_Shift_Del DEL T T - TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:152081768delT ENST00000368804.1 - 2 3924 c.3925delA c.(3925-3927)aggfs p.R1310fs NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1310 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGTCGCGCCTTTTGGCTTCC 0.547 7 544 --- --- --- --- PBXIP1 57326 broad.mit.edu 37 1 154917508 154917510 + In_Frame_Del DEL GGT GGT - rs143592003 TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr1:154917508_154917510delGGT ENST00000368463.3 - 11 2257_2259 c.2186_2188delACC c.(2185-2190)caccgg>cgg p.H729del PBXIP1_ENST00000368465.1_In_Frame_Del_p.H700del|PBXIP1_ENST00000542459.1_In_Frame_Del_p.H574del|PBXIP1_ENST00000539880.1_In_Frame_Del_p.H556del NM_020524.2 NP_065385.2 Q96AQ6 PBIP1_HUMAN pre-B-cell leukemia homeobox interacting protein 1 729 His-rich. cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent cytosol|microtubule|nucleus protein binding|transcription corepressor activity breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1) 24 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGTCAGCCCCGGTGGTGGTGGTG 0.640 7 254 --- --- --- --- PHF7 51533 broad.mit.edu 37 3 52456270 52456291 + Frame_Shift_Del DEL TCTCAGACTTATATCAGCGCTA TCTCAGACTTATATCAGCGCTA - TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr3:52456270_52456291delTCTCAGACTTATATCAGCGCTA ENST00000327906.3 + 9 1373_1394 c.713_734delTCTCAGACTTATATCAGCGCTA c.(712-735)ttctcagacttatatcagcgctatfs p.FSDLYQRY238fs PHF7_ENST00000347025.2_Intron NM_016483.4 NP_057567.3 Q9BWX1 PHF7_HUMAN PHD finger protein 7 238 nucleus zinc ion binding breast(2)|large_intestine(4)|lung(3) 9 BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275) CCAGGGGCTTTCTCAGACTTATATCAGCGCTATCAGCACTGT 0.495 9 129 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36651987 36651988 + Frame_Shift_Ins INS - - T TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:36651987_36651988insT ENST00000405375.1 + 2 344_345 c.109_110insT c.(109-111)ctafs p.L37fs CDKN1A_ENST00000448526.2_Frame_Shift_Ins_p.L71fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Ins_p.L37fs|CDKN1A_ENST00000244741.5_Frame_Shift_Ins_p.L37fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 37 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 CTGTGATGCGCTAATGGCGGGC 0.663 12 46 --- --- --- --- CDKN1A 1026 broad.mit.edu 37 6 36652126 36652139 + Frame_Shift_Del DEL GGCGAGGCCGGGAT GGCGAGGCCGGGAT - rs34916193 byFrequency TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:36652126_36652139delGGCGAGGCCGGGAT ENST00000405375.1 + 2 483_496 c.248_261delGGCGAGGCCGGGAT c.(247-261)cggcgaggccgggatfs p.RRGRD83fs CDKN1A_ENST00000448526.2_Frame_Shift_Del_p.RRGRD117fs|CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000373711.2_Frame_Shift_Del_p.RRGRD83fs|CDKN1A_ENST00000244741.5_Frame_Shift_Del_p.RRGRD83fs NM_001220778.1 NP_001207707.1 P38936 CDN1A_HUMAN cyclin-dependent kinase inhibitor 1A (p21, Cip1) 83 cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding p.R86W(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5) 15 ACGGGGCCCCGGCGAGGCCGGGATGAGTTGGGAG 0.645 8 23 --- --- --- --- NUP43 348995 broad.mit.edu 37 6 150067783 150067786 + Frame_Shift_Del DEL CAGT CAGT - TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr6:150067783_150067786delCAGT ENST00000367403.3 - 1 28_31 c.29_32delACTG c.(28-33)gactgtfs p.DC10fs NUP43_ENST00000463048.3_Intron Q8NFH3 NUP43_HUMAN nucleoporin 43kDa 0 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101) AGTGTGGGCACAGTCAGTACCTAG 0.564 3 3 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99578706 99578706 + RNA DEL A A - TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr7:99578706delA ENST00000425474.1 + 0 87 NR_036679.1 cttagtttacagtgaaaacaa 0.522 3 6 --- --- --- --- HAMP 57817 broad.mit.edu 37 19 35773520 35773522 + In_Frame_Del DEL CTC CTC - TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr19:35773520_35773522delCTC ENST00000598398.1 + 2 336_338 c.40_42delCTC c.(40-42)ctcdel p.L18del HAMP_ENST00000222304.3_In_Frame_Del_p.L18del NM_021175.2 NP_066998.1 P81172 HEPC_HUMAN hepcidin antimicrobial peptide 18 defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism extracellular region hormone activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1) 4 all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162) Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) TTGCCTCCTGCTCCTCCTCCTCC 0.640 8 415 --- --- --- --- DGCR5 26220 broad.mit.edu 37 22 18976301 18976324 + RNA DEL TATTTATTTATTTATTTATTTATT TATTTATTTATTTATTTATTTATT - rs139950802 TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chr22:18976301_18976324delTATTTATTTATTTATTTATTTATT ENST00000438934.1 + 0 394 DGCR5_ENST00000440005.2_RNA|DGCR5_ENST00000421572.1_RNA TGGCTGGACAtatttatttatttatttatttatttatttattta 0.411 4 2 --- --- --- --- FTX 100302692 broad.mit.edu 37 X 73506653 73506654 + RNA INS - - A rs149262205 TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 Untested Somatic Phase_I WXS none Illumina GAIIx a8f0d416-2102-43ea-9cf1-465c37f9642a 50c589ea-8019-4a0d-92c8-afe1a1e737de g.chrX:73506653_73506654insA ENST00000429124.1 - 0 174 acctgtcccttaaaaaaaaaaa 0.455 2 4 --- --- --- ---